Molecular analyses in hemophilia B families:: identification of six new mutations in factor IX gene

被引：0

作者：

Espinós, C ^{[1
]}

Casaña, P ^{[1
]}

Haya, S ^{[1
]}

Cid, AR ^{[1
]}

Aznar, JA ^{[1
]}

机构：

[1] Univ Valencia, Hosp La Fe, Unidad Coagulopatias Congenitas, Valencia 46009, Spain

来源：

HAEMATOLOGICA | 2003年 / 88卷 / 02期

关键词：

hemophilia B; factor IX gene; mutations;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Twenty-two Spanish families with hemophilia B have been studied in order to characterize the mutation responsible for the disorder and to carry out family studies. All the essential regions of the factor IX gene were sequenced and the pathologic mutation was identified in every case. Twenty different molecular changes were identified, six of them undescribed elsewhere.

引用

页码：235 / 236

页数：2

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